9 research outputs found
Ichthyosis hystrix: An unusual presentation
Ichthyosis hystrix (IH) is a rare, genetically, and clinically heterogeneous group of ichthyosiform dermatoses characterized by spiny hyperkeratotic scales. It is inherited either as an autosomal dominant or a sporadic variety. The phenotypic expression varies from a severe generalized involvement to localized and nevoid forms. The incidence of this disorder has not been reported in the literature. We report a sporadic case of IH involving neck, trunk, and extremities with increased scaling over the flexural aspects which is a rare presentation of this rare disease
Poikiloderma a varied presentation - Huriez syndrome
Huriez syndrome is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma (PPK) and hypoplastic nails. We report the case of a 25 year old male, with nonfamilial Huriez syndrome
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A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome –type 3
Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin (partial albinism). Three different types (1-3) caused by mutation in three different genes have been described. Patients with GS type 1 have primary central nervous system dysfunction; type 2 patients commonly develop hemophagocytic lymphohistiocytosis and type 3 patients present with partial albinism only. Two siblings discussed here had silvery hair, eyebrows and eyelashes since birth with no features suggestive of immunodeficiency or neurological impairment, making it an even rarer presentation of Griscelli Syndrome, type 3. Diagnosis was confirmed on light microscopy (LM) of hair shafts. Both GS1 and GS2 have been described earlier. However, extensive search of the literature failed to reveal a similar presentation from Indian origin. This is the first ever report of GS-3 in non-identical siblings from India
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A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome –type 3
Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin (partial albinism). Three different types (1-3) caused by mutation in three different genes have been described. Patients with GS type 1 have primary central nervous system dysfunction; type 2 patients commonly develop hemophagocytic lymphohistiocytosis and type 3 patients present with partial albinism only. Two siblings discussed here had silvery hair, eyebrows and eyelashes since birth with no features suggestive of immunodeficiency or neurological impairment, making it an even rarer presentation of Griscelli Syndrome, type 3. Diagnosis was confirmed on light microscopy (LM) of hair shafts. Both GS1 and GS2 have been described earlier. However, extensive search of the literature failed to reveal a similar presentation from Indian origin. This is the first ever report of GS-3 in non-identical siblings from India
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Harlequin syndrome: a mask of rare dysautonomic syndromes
Harlequin syndrome (HS) is a rare disorder of the sympathetic nervous system which presents with unilateral decreased sweating and flushing of the face, neck, and chest in response to heat, exercise, or emotional factors. The contralateral side displays a compensatory overreaction to provide normal heat regulation of the face as a whole. In the literature, most of the cases are primary in nature and no underlying cause could be identified. Harlequin sign is used to denote these symptoms in patients who also exhibit associated oculosympathetic paresis, such as Horner syndrome, Adie syndrome, and Ross syndrome.We report a rare case of a 13-year-old boy who presented with complaints of flushing and sweating of the left side of the face after exertion, while the right side remained dry and maintained its normal color. No structural abnormality was identified on detailed work up. Thus, diagnosis of classic idiopathic HS was made. Despite the rarity of this syndrome, dermatologists should be acquainted with this distinctive entity and should refer the patient for complete ophthalmological and neurological examination